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Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel.

Type of publication Peer-reviewed
Publikationsform Original article (peer-reviewed)
Publication date 2011
Author Grilo Liliana Sintra, Schläpfer Jürg, Fellmann Florence, Abriel Hugues,
Project In vivo relevance of the PY and PDZ-domain binding motifs of the cardiac sodium channel Nav1.5
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Original article (peer-reviewed)

Journal Annals of noninvasive electrocardiology : the official journal of the International Society for Holt
Volume (Issue) 16(2)
Page(s) 213 - 8
Title of proceedings Annals of noninvasive electrocardiology : the official journal of the International Society for Holt
DOI 10.1111/j.1542-474X.2011.00419.x

Abstract

We report the case of a woman with syncope and persistently prolonged QTc interval. Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C. Electrophysiological and biochemical characterizations unveiled the pathogenicity of this new mutation, displaying a 2-fold reduction in protein expression and current density due to a maturation/trafficking-deficient mechanism. The patient's phenotype can be fully explained by this observation. This study illustrates the importance of performing genetic analyses and mutation characterization when there is a suspicion of congenital LQTS. Identifying mutations in the PAS domain or other domains of the hERG1 channel and understanding their effect may provide more focused and mutation-specific risk assessment in this population.
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